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    PWWP3B PWWP domain containing 3B [ Homo sapiens (human) ]

    Gene ID: 139221, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PWWP3Bprovided by HGNC
    Official Full Name
    PWWP domain containing 3Bprovided by HGNC
    Primary source
    HGNC:HGNC:26583
    See related
    Ensembl:ENSG00000157502 AllianceGenome:HGNC:26583
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MUM1L1
    Summary
    This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
    Expression
    Biased expression in ovary (RPKM 87.9), testis (RPKM 13.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PWWP3B in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (106168305..106208956)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (104600239..104640937)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (105412298..105452949)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene serpin family A member 7 Neighboring gene CTDSPL2 pseudogene 2 Neighboring gene CSGALNACT2 pseudogene 2 Neighboring gene nucleosome assembly protein 1 like 4 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MUM1L1 as a Tumor Suppressor and Potential Biomarker in Ovarian Cancer: Evidence from Bioinformatics Analysis and Basic Experiments. Zhang L, et al. Comb Chem High Throughput Screen, 2023. PMID 36856181
    2. A PWWP Domain of Histone-Lysine N-Methyltransferase NSD2 Binds to Dimethylated Lys-36 of Histone H3 and Regulates NSD2 Function at Chromatin. Sankaran SM, et al. J Biol Chem, 2016 Apr 15. PMID 26912663, Free PMC Article
    3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    4. BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A. Mao CG, et al. Thorac Cancer, 2020 Nov. PMID 33001583, Free PMC Article
    5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MUM1L1 as a Tumor Suppressor and Potential Biomarker in Ovarian Cancer: Evidence from Bioinformatics Analysis and Basic Experiments.
      Title: MUM1L1 as a Tumor Suppressor and Potential Biomarker in Ovarian Cancer: Evidence from Bioinformatics Analysis and Basic Experiments.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ33516, MGC129994, MGC129995

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    PWWP domain-containing DNA repair factor 3B
    Names
    MUM1 like 1
    MUM1-like protein 1
    PWWP domain-containing protein MUM1L1
    melanoma associated antigen (mutated) 1-like 1
    mutated melanoma-associated antigen 1-like protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016639.2 RefSeqGene

      Range
      5001..45652
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001171020.2 → NP_001164491.1  PWWP domain-containing DNA repair factor 3B

      See identical proteins and their annotated locations for NP_001164491.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA412505, BC109292, DA720504, DB445635, Z68289
      Consensus CDS
      CCDS55469.1
      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
      Related
      ENSP00000349699.2, ENST00000357175.6
      Conserved Domains (1) summary
      cd06080
      Location:390 → 469
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    2. NM_152423.5 → NP_689636.3  PWWP domain-containing DNA repair factor 3B

      See identical proteins and their annotated locations for NP_689636.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA412505, AK056478, BC031229, BC109292, CN369699, DA720504
      Consensus CDS
      CCDS55469.1
      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
      Related
      ENSP00000338641.2, ENST00000337685.6
      Conserved Domains (1) summary
      cd06080
      Location:390 → 469
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      106168305..106208956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441823.1 → XP_047297779.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    2. XM_017029269.2 → XP_016884758.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
      Conserved Domains (1) summary
      cd06080
      Location:390 → 469
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    3. XM_047441822.1 → XP_047297778.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    4. XM_011530856.2 → XP_011529158.1  PWWP domain-containing DNA repair factor 3B isoform X1

      See identical proteins and their annotated locations for XP_011529158.1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
      Conserved Domains (1) summary
      cd06080
      Location:390 → 469
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    5. XM_047441824.1 → XP_047297780.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    6. XM_047441825.1 → XP_047297781.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
      Related
      ENSP00000361632.1, ENST00000372552.1

    7. XM_024452334.2 → XP_024308102.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
      Conserved Domains (1) summary
      cd06080
      Location:390 → 469
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    8. XM_011530857.2 → XP_011529159.1  PWWP domain-containing DNA repair factor 3B isoform X1

      See identical proteins and their annotated locations for XP_011529159.1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
      Conserved Domains (1) summary
      cd06080
      Location:390 → 469
      MUM1_like; Mutated melanoma-associated antigen 1 (MUM-1) is a melanoma-associated antigen (MAA). MUM-1 belongs to the mutated or aberrantly expressed type of MAAs, along with antigens such as CDK4, beta-catenin, gp100-in4, p15, and N-acetylglucosaminyltransferase ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      104600239..104640937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326466.1 → XP_054182441.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    2. XM_054326464.1 → XP_054182439.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    3. XM_054326465.1 → XP_054182440.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    4. XM_054326463.1 → XP_054182438.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    5. XM_054326462.1 → XP_054182437.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    6. XM_054326460.1 → XP_054182435.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6

    7. XM_054326461.1 → XP_054182436.1  PWWP domain-containing DNA repair factor 3B isoform X1

      UniProtKB/Swiss-Prot
      D3DUX2, Q49AS5, Q5H9M0, Q8N2C0, Q96MT6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5H9M0.1 GenPept UniProtKB/Swiss-Prot:Q5H9M0

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